Gerarda Cappuccio to Mutation
This is a "connection" page, showing publications Gerarda Cappuccio has written about Mutation.
Connection Strength
1.437
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A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
Score: 0.267
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Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation. Am J Med Genet A. 2017 Oct; 173(10):2743-2746.
Score: 0.219
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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. BMC Med Genet. 2014 Jan 28; 15:15.
Score: 0.172
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Biallelic variants in CENPF causing a phenotype distinct from Str?mme syndrome. Am J Med Genet C Semin Med Genet. 2022 03; 190(1):102-108.
Score: 0.076
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
Score: 0.071
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Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series. J Clin Endocrinol Metab. 2021 01 23; 106(2):539-553.
Score: 0.070
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Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950.
Score: 0.068
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Am J Hum Genet. 2019 08 01; 105(2):283-301.
Score: 0.063
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Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. Mol Genet Genomic Med. 2019 06; 7(6):e708.
Score: 0.062
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Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019 05; 42(3):509-518.
Score: 0.061
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.044
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625.
Score: 0.022
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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Am J Med Genet C Semin Med Genet. 2024 Dec; 196(4):e32089.
Score: 0.022
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Antibody Deficiency in Patients with Biallelic KARS1 Mutations. J Clin Immunol. 2023 11; 43(8):2115-2125.
Score: 0.021
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023 02 23; 14(1):1009.
Score: 0.020
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Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant. Eur J Med Genet. 2022 May; 65(5):104500.
Score: 0.019
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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. 2023 02; 60(2):163-173.
Score: 0.019
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Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab. 2022 02 17; 107(3):e1136-e1147.
Score: 0.019
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445.
Score: 0.019
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 10 01; 11(1):4932.
Score: 0.017
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260.
Score: 0.017
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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum Mutat. 2020 10; 41(10):1761-1774.
Score: 0.017
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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 07; 8(7):594-605.
Score: 0.017
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A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Am J Med Genet A. 2018 02; 176(2):426-430.
Score: 0.014
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Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. J Peripher Nerv Syst. 2015 Dec; 20(4):415-8.
Score: 0.012
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Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Ital J Pediatr. 2012 Nov 16; 38:65.
Score: 0.010